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13 OMIM references -
10 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Nuclear cataract
Hypoplastic left heart syndrome

CRYAA GJA1
CRYBB1 NKX2-5
CRYBB2
CRYBB3
CRYGD
FYCO1
GJA3
MIP
NHS
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA3
(0.73)
GJA1



Citations in the biomedical literature:


Nuclear cataract
CRYAA CRYBB1 CRYBB2 CRYBB3 CRYGD FYCO1
GJA3 MIP NHS WFS1
Hypoplastic left heart syndrome
GJA1 NKX2-5



Nuclear cataract
Hypoplastic left heart syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown

External references:
13 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D018636

Hypoplastic left heart syndrome

Very frequent
- Hypoplastic left heart / ventricle
- Stillbirth / neonatal death

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication


Nuclear cataract

(no data available)